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Luisa Averdunk

Showing results (11-20 of 31) with videos related to

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Journal of Clinical Medicine|September 16, 2020
The <i>Macrophage Migration Inhibitory Factor</i> (<i>MIF</i>) Promoter Polymorphisms (rs3063368, rs755622) Predict Acute Kidney Injury and Death after Cardiac SurgeryLuisa Averdunk, Jürgen Bernhagen, Karl Fehnle, et al.
Clinical Genetics|December 28, 2022
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domainLuisa Averdunk, Khalid Al-Thihli, Harald Surowy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 10, 2026
Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiencyLuisa Averdunk, Karin Konzett, Hanna Mandel, et al.
Journal of Molecular Medicine (Berlin, Germany)|September 18, 2021
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotypeLuisa Averdunk, Heinrich Sticht, Harald Surowy, et al.
Journal of Molecular Medicine (Berlin, Germany)|October 18, 2021
Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotypeLuisa Averdunk, Heinrich Sticht, Harald Surowy, et al.
Science Translational Medicine|May 18, 2018
The protective role of macrophage migration inhibitory factor in acute kidney injury after cardiac surgeryChristian Stoppe, Luisa Averdunk, Andreas Goetzenich, et al.
Autophagy|September 29, 2024
Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in <i>Drosophila</i> and Vici syndrome patientsCeline Deneubourg, Hormos Salimi Dafsari, Simon Lowe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2023
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescenceLuisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhoodMargot R F Reijnders, Annette Seibt, Melanie Brugger, et al.
Journal of Medical Genetics|November 6, 2021
Bi-allelic loss-of-function variants in <i>KIF21A</i> cause severe fetal akinesia with arthrogryposis multiplexRuth J Falb, Amelie J Müller, Wolfram Klein, et al.
Pageof 4

Showing results (11-20 of 31) with videos related to

Sort By:
Pageof 4
Journal of Clinical Medicine|September 16, 2020
The <i>Macrophage Migration Inhibitory Factor</i> (<i>MIF</i>) Promoter Polymorphisms (rs3063368, rs755622) Predict Acute Kidney Injury and Death after Cardiac SurgeryLuisa Averdunk, Jürgen Bernhagen, Karl Fehnle, et al.
Clinical Genetics|December 28, 2022
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domainLuisa Averdunk, Khalid Al-Thihli, Harald Surowy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 10, 2026
Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiencyLuisa Averdunk, Karin Konzett, Hanna Mandel, et al.
Journal of Molecular Medicine (Berlin, Germany)|September 18, 2021
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotypeLuisa Averdunk, Heinrich Sticht, Harald Surowy, et al.
Journal of Molecular Medicine (Berlin, Germany)|October 18, 2021
Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotypeLuisa Averdunk, Heinrich Sticht, Harald Surowy, et al.
Science Translational Medicine|May 18, 2018
The protective role of macrophage migration inhibitory factor in acute kidney injury after cardiac surgeryChristian Stoppe, Luisa Averdunk, Andreas Goetzenich, et al.
Autophagy|September 29, 2024
Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in <i>Drosophila</i> and Vici syndrome patientsCeline Deneubourg, Hormos Salimi Dafsari, Simon Lowe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2023
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescenceLuisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhoodMargot R F Reijnders, Annette Seibt, Melanie Brugger, et al.
Journal of Medical Genetics|November 6, 2021
Bi-allelic loss-of-function variants in <i>KIF21A</i> cause severe fetal akinesia with arthrogryposis multiplexRuth J Falb, Amelie J Müller, Wolfram Klein, et al.
Pageof 4